Diverse clinical phenotypes can be identified through genome topography of human retina development. A research team recently mapped 3D organisation of gene materials for the key development stages of the human retina formation, using models of retina growth in a laboratory environment. These findings lay a foundation to understand the clinical traits of numerous eye diseases.

The results of the study provided a valuable insight into the heritable gene landscaping in the developing human retina. This was seen in the abundant cell types that are associated with vision impairments associated with retinal diseases. The team used deep Hi-C sequencing that is used to study 3D genome organisations. This enabled the researchers to create a high resolution map of chromatin in the retina at five points of development.

Genes are the sequence that codes for proteins and RNA and are found throughout the long DNA strands. These strands are placed in chromatin fibres which are looped multiple times to form a compact structure that fits into the cell nucleus. The loop creates millions of points where genes encounter non-coding DNA sequences, including promoters, silencers and super enhancers that are responsible to regulating gene expression.

The research team uncovered a very interesting image during the study showing that the nucleus is transformed during retinal development, facilitation specific genes at key time periods. At a stage when immature cells are developing the retinal cell characteristics, chromatin contact points change from a proximal enriched state to a distal interaction.

Ray Man, the PA to Mahi Muqit, a leading retinal eye specialist in London, said “The researchers found that there is hierarchy of the compartments that organise the contact point interactions. Some are stable and then there are those that change during development. “

Mahi Muqit is a leading retinal eye specialist that practices and operates at the reputable Moorfields Eye Hospital in London. He is backed by years of experience with a passion for patient care. He is also an active volunteer for Helen Keller International and has travelled extensively as a consultant ophthalmologist, educating medical teams on diabetic retinopthy. Full details can be found on his information packed website.

About Us:

Mahi Muqit is a leading consultant ophthalmologist, cataract and vitreoretinal surgeon at two private clinics in London, United Kingdom. He provides patients with superior service and support with a range of surgical procedures to meet their eye sight requirements. He has built up a solid reputation for his eye services in the London area as an expert eye doctor and surgeon offering surgical retina, medical retina and complex cataract surgery. He also offers surgery to patients suffering from diabetic retinopathy. Mahi Muqit is a member of the Royal College of Ophthalmologists, a member of the British and Eire Association of Vitreoretinal Surgeons and the UK and Ireland Society of Cataract and Refractive Surgeons. To find out more, visit https://www.retinasurgeon.uk.com/.